tbuckley/cabot-search huggingface dataset:
P-073: SICKLE CELL ANEMIA: MAPPING AND MOLECULAR CHARACTERIZATION OF HEMOGLOBIN MUTATIONS AND THEIR CLINICAL CORRELATION IN TRIBAL AND NON-TRIBAL POPULATIONS OF MADHYA PRADESH.
Authors: MUN A., UIKEY R., GWAL A., SHANMUGAM R.
Journal: HemaSphere (2022)

Purpose: Introduction: Hemoglobinopathies are genetic disorders resulting from heritable mutations through changes in amino acid sequence, structure, behaviour, production rate, and/or its stability. Although more than one thousand hemoglobin mutations have been reported globally, only a few are common and clinically significant. In Central India, no systemic study has been carried out to either map the common hemoglobin variants or to identify rare mutations. In the present studies, efforts have been made to identify hemoglobin mutants among tribals and non tribals of Central India to address the paucity of data in assisting the care givers and administrators in developing early therapeutic interventions to reduce the morbidity and mortality of the disease Materials and methods: Material and Methods: In Tribal dominated Madhya Pradesh, no public health facilities or screening programs exists. Community screening including field tests and High performance Liquid chromatography tests were carried out to identify all haemoglobin disorders. Results: Results: Mapping of the entire state for prevalence of sickle hemoglobin, beta thalassaemia and G6PD deficiency among unscreened Scheduled tribes and Scheduled caste populations revealed Sickle hemoglobin (HbS) was mainly distributed over 32 districts (comprising of 240 blocks/ taluks) with prevalence varying from 3 to 35%. Moreover, several uncommon mutations were detected for first time among these ethnic populations and belonged to both classes of beta and alpha chain variants. These mutations altered the clinical manifestations when co-inherited with other common hemoglobin disorders. Conclusion: Conclusions: A systemic study to identify uncommon hemoglobin mutations and major hemoglobinopathies among scheduled caste and scheduled tribe populations need to be undertaken to reduce the morbidities and associated mortalities. The authors do not declare any conflict of interest
P-088: MELIOIDOSIS AND SICKLE CELL DISEASE: DESCRIPTION OF A RARE ASSOCIATION
Authors: YA PONGOMBO S., OKITOTSHO W., MUEPU T.
Journal: HemaSphere (2022)

Purpose: Melioidosis and its germ Burkholderia pseudomallei are increasingly reported on the African continent and particularly in Central Africa. It is called “Great Mimicker” because it produces a wide range of clinical characteristics that would be found in patients living with major sickle cell syndrome. Few cases have been reported in Africa. But In DRC no cases have been previously described in SCD patients. Materials and methods: We describe here 3 clinical cases presenting this very rare association between melioidosis and sickle cell disease. Results: Three homozygous SS children residing in Lubumbashi in the Democratic Republic of Congo were concerned. One patient presented with sepsis as a clinical form of the disease. All 3 had presented a pulmonary form, 2 pneumonia and 1 pleuropneumonia. The 1rst one patient with spesis was treated specifically with infusion ceftazidime for 21 days followed by oral cotrimoxazole for 2 months after the diagnosis of melioidosis. Regular clinical improvement was observed with treatment although fever did not decrease until the 17th day after admission. The patient was discharged on the 22nd day. The patient was seen again in consultation three months after his discharge from the hospital. He was asymptomatic and the clinical examination was unremarkable. For the other two cases, diagnosis was confirmed in postmortem. Globally, the death rate was 66.67%. Conclusion: These cases are, to our knowledge, the first cases of melioidosis reported in sickle cell patients. This association requires further researches to establish whether, like beta-thalassemia major, sickle cell anemia can be considered as a risk factor for melioidosis. A screening of cases of melioidosis in SCD cohorts should allow a best comprehension of a such association. The authors do not declare any conflict of interest
PI-09: LESSONS LEARNED FROM ONE DECADE EXPERIENCE OF THE « CENTRE DE RECHERCHE ET DE LUTTE CONTRE LA DRÉPANOCYTOSE (CRLD) » IN BAMAKO, MALI.
Authors: DIALLO D., GUINDO A.
Journal: HemaSphere (2022)

Purpose: In 2006, WHO declared sickle cell disease (SCD) as a global public health priority and recommended the development of Reference Centers in the sub-Saharan African region where the disease affects 1 to 2% of births. In Mali, the birth rate was estimated at 714,000 per year and the incidence of sickle cell anemia (homozygous SS + S/β-thalassemia + SC), at 0.8% of live births. To begin to adress the issue of reducing the burden of the SCD in Mali, a Sickle Cell Research and Control Center was established in Bamako in 2010. This presentation, reports the experience of the first decade of operation of this Center. Materials and methods: Through the circumstances of its creation, the principle of operation and the results acquired by the Center in ten years of functioning, we make an analysis on the possible future orientations to optimize the management of sickle cell disease in sub-Saharan Africa by the Reference Centers. Results: The « Centre de Recherche et de Lutte contre la Drépanocytose (CRLD) » was established as a result of coordinated efforts by the Government of Mali, SCD patients association, and a consortium of partners led by Pierre Fabre foundation. The assigned objectives were: to support access to quality care with equity, to develop medical research on sickle cell disease, to train medical personnel on sickle cell disease, to develop education, information and communication on the disease, to promote national and international collaboration (South-South, North-South). In order to ensure an equitable access to care, the center provides treatment with no consideration of the financial status of the family. Since March 2010, when the Center began its activities, 956 patients from the first year to 10745 sickle cell patients in 2019 have been recruited and are being provided with regular follow-up and access to treatment. Sickle cell mortality assessed in 2016 was estimated at 0.035 per 100 person-years (0.040 per 100 person-years before 5 years). In terms of research, 44 research protocol have been conducted and 26 scientific papers were published. Within the framework of an university degree, the Center has trained 126 physicians from 12 French-speaking countries in East and West Africa, Madagascar and Haiti. More than 300 communications relays were trained. Conclusion: If the growing increase in patients recruitment has shown the validity of the creation of the Center with satisfactory results in the support of specific care, the results of some of its asigned objectives have remained below expectations. We propose a new approach for the management of sickle cell disease in sub-Saharan Africa that follows a pyramid-schape of healthcare services. The authors do not declare any conflict of interest
P-083: IMPACT OF ALPHA THALASSEMIA COEXISTENCE ON TRANSFUSION NEED AMONG PATIENTS WITH SICKLE CELL DISEASE
Authors: MADRUGA DE OLIVEIRA LAGROTTA PITTELLA A., FRANCO SANTOS O., APOLINÁRIO SANTOS A., DE MARTIN ALMEIDA R., SETTE ESPÓSITO T., DE OLIVEIRA WERNECK RODRIGUES L., NOYMA SAMPAIO MAGALHÃES N., DE OLIVEIRA WERNECK RODRIGUES D.
Journal: HemaSphere (2022)

Purpose: Thalassemia alfa (Alpha-Thal) and sickle cell disease (SCD) are hemoglobinopathies that can be inherited concomitantly. The scientific literature suggests an improvement in the clinical picture of SCD when these conditions coexist, due to the greater potential for deformation of red blood cells and lower rates of hemolysis, positively impacting complications and transfusion needs. The aim of this study was to evaluate, in a population of patients with SCD, the frequency of deletions for the alpha-Thal genes and whether this characteristic resulted in a significantly lower number of transfusions. Materials and methods: 138 medical records of children born between 1998 and 2007, with SCD registered at Fundação Hemominas Juiz de Fora - Brazil, from August 1998 to July 2018 were evaluated. The inclusion criteria for the analysis were patients with active follow-up, diagnostic test through neonatal screening standardized (High Performance Liquid Chromatography- HPLC and Isoelectric Focusing Electrophoresis - IFE) by Núcleo de Ação e Pesquisa em Apoio Diagnóstico of Universidade Federal de Minas Gerais and the exclusion criteria were diagnosis through another methodology, loss of follow-up and death. The variables analyzed were the presence or absence of the deletion for Alpha-Thal(3,7) and the number of transfusions in the observational period using the Qui-Square test (SPSS 15 ®). Study approved by the Research Ethics Committee. Results: 10 patients died before the exams, there was a loss of follow-up in 11 patients due to the transfer or abandonment of treatment and 5 patients did not attend the testing for Alpha-Thal(3,7) in the period for collection. In the total sample, 60.9% were diagnosed with HbSS genotype, 28.3% HbSC, 6.5% HbSBeta0, 3.6% HbSBeta+ and 0.7% HbSD. 4.27% of the patients had two deletions, against 25.64% with one deletion and 65.81% without Alpha-Thal(3,7). Regarding polytransfused patients (10 or more transfusions), 22.1% of patients had no deletions, compared to 16.67% of those with a deletion and 0% of patients with two deletions for Alpha-Thal(3,7) (p = 0.036). Conclusion: It was observed a lower number of patients undergoing hypertransfusion and a lesser need for transfusions among those with deletions of Alpha-Thal(3,7) genes when comparing them to non-carriers, strengthening the role of Alpha Thalassemia coexistence as a protective factor in the SCD. The authors do not declare any conflict of interest
P-034: EFFECTS OF HYDROXYUREA ON SKELETAL MUSCLE MICROVASCULATURE OF MICE WITH SICKLE CELL DISEASE
Authors: RICCETTI M., MICHEL C., BENDAHAN D., MESSONNIER L.
Journal: HemaSphere (2022)

Purpose: Hydroxyurea (HU), also known as hydroxycarbamide has been commonly used as a therapeutic strategy in Sickle Cell Disease (SCD) since 19841. HU has been recognized as efficient in SCD patients with an acceptable toxicity2. From a clinical point of view, HU has been shown to reduce painful episodes, hospitalizations, blood transfusions, acute chest syndrome and mortality3,4. These beneficial roles of HU are mediated by the increase of fetal hemoglobin (HbF) production and the decrease of abnormal hemoglobin (HbS) levelin erythrocytes. HU can then reduce the polymerization-sickling cascade thereby causing a decrease in the number of circulating sickled red blood cells5. HU also induces physiological changes such as an increase in both number and size of erythrocytes. It can also decreases hemolysis6. HU is also known as a nitric oxide (NO) donor which can directly affect the microvascular function. Although microvasculature is known to be remodeled in SCD (capillary rarefaction and enlargement8), the corresponding effects of HU have been scarcely reported. Given that HU improves hemorheologic and hemodynamic functions in SCD patients, one can hypothesize that HU may be beneficial for skeletal muscle microvasculature. Materials and methods: Gastrocnemius muscles of 11 HbSS mice and 12 HbSS HU-treated mice (Townes model) were used to perform histochemical analyses. Morphometric analyses of microvasculature were performed by staining the endothelial cells with CD31 antibody. Microvascular network analysis included Capillary Outer Diameter (COD), Perimeter (CP), Surface Area (CSA), and Density (CD, number of capillaries per mm2) as well as the capillaries to muscle fibers ratio for a given muscle area (C/F). ANOVA and Tukeys post-hoc tests were used to compare data of HbSS and HbSS HU-treated mice. Significance was accepted when p≤ 0.05. Results: HbSS HU-treated mice displayed significantly higher COD, CP and CSA. than control HbSS mice (p = .033, p = .013, and p = .005 respectively, Figure 1). On the other hand, CD and C/F did not differ between HbSS and HbSS HU-treated mice (Figure 2). Conclusion: Given that HU is a NO donor on the one hand and that NO can induce hyperemia on the other hand, one can hypothesize that that the widening of capillaries might be related to hyperemia related to HU-treatment. As supporting evidences, Bosman et al 9 reported that hyperemia induced capillary distension/enlargement while Kano et al.10 observed a reduced capillary luminal diameter in response to a reduced blood flowFigure 1. Capillary outer diameter (COD), area (CA) and perimeter (CP) in HbSS and HbSS HU-treated mice.Figure 2. CD and C/F Indices of microvascular network in HbSS and HbSS HU-treated mice The authors do not declare any conflict of interest
P-015: A NON-INFERIORITY SINGLE-BLINDED RANDOMIZED CONTROLLED CLINICAL TRIAL ON THE EFFICACY OF ORAL MORPHINE VERSUS INJECTABLE TRAMADOL IN THE ANALGESIC MANAGEMENT OF SEVERE PAINFUL VASO-OCCLUSIVE CRISIS IN CHILDREN WITH SICKLE CELL DISEASE
Authors: ALIMA YANDA A., EPOSSE EKOUBE C., MAYI MBAM E., WETE E., MANDENG MA LINWA E., KOKI NDOMBO P.
Journal: HemaSphere (2022)

Purpose: In Cameroon, pain management in children with sickle cell disease presenting at pediatric emergency services remains problematic due to the limited availability of morphine on the Cameroonian market. Although tramadol is not recommended by the WHO for the management of severe vaso-occlusive crises in children, this molecule is pharmacologically similar to morphine and remains the main analgesic used in pediatric emergency services in Cameroon. Materials and methods: In order to compare the analgesic effect of oral morphine and injectable tramadol, we conducted a non-inferiority single-blinded randomized controlled clinical trial over a period of 2.5 months. We included in our study 45 patients. Patients included were sickle cell disease patients aged between 5 and 17 years who were admitted at the pediatric emergency department of the CME-FCB for vaso-occlusive crisis and had a pain intensity 3 70/100 on the visual analogue scale (VAS). After obtaining informed consent from the parents, the patients were randomly divided into 2 groups, one receiving oral morphine 0.4 mg/kg/4h + injectable placebo/6 h and the other receiving injectable tramadol 1.5 mg/kg/6 h + placebo capsule/4h. Diclofenac in suspension (1 mg/kg/8 h) was prescribed as part of additional analgesia, in case pain intensity was 3 5/10 on the VAS two hours after taking any of the treatments. Results: Forty-two (42) children completed the study. The male to female sex ratio was 1.3. The median age of the patients was 10.5 years (IQR 8.8-12.3). There was no significant difference between the medians of the initial pain intensity (p=0.184). Pain relief at the 30th minute was better for patients in the Tramadol group (p=0.019). Patients in the tramadol group used the additional analgesic twice as much as those in the morphine group (p=0.032). There was no significant difference between the median duration of analgesic treatment for morphine, 4.1 days (IQR 2.6-4.5) Vs 4.3 days (IQR 2.6-5.8), p=0.350 for tramadol respectively. The incidence of occurrence of pruritus was greater in the morphine group (p=0.008). Conclusion: The comparison of median pain intensity showed a difference in favour of tramadol at the 30th minute, a contrast that could be explained by the difference in bioavailability between oral morphine and injectable tramadol. Nonetheless, injectable tramadol is efficacious in the analgesic management of severe vaso-occlusive crises in children with sickle cell disease and may constitute, in combination with a non-steroidal anti-inflammatory drug (NSAID), an alternative to morphine in countries where the latter is still grossly unavailable. The authors do not declare any conflict of interest
P-035: RED BLOOD CELL ALLOIMMUNIZATION IN SICKLE CELL DISEASE PATIENTS IN THE DEMOCRATIC REPUBLIC OF THE CONGO
Authors: KAMBALE-KOMBI P., MARINI DJANG’EING’A R., ALWORONG’A OPARA J., MINON J., SEPULCHRE E., BOURS V., FLOCH A., PIRENNE F., KAYEMBE TSHILUMBA C., BATINA AGASA S.
Journal: HemaSphere (2022)

Purpose: Data regarding red blood cell (RBC) alloimmunization in sickle cell disease (SCD) patients are scarce in the Democratic Republic of the Congo (DRC) which is the third most affected country in the world by sickle cell disease. We aimed to determine the prevalence of red blood cell alloimmunization and alloantibody specificity in SCD patients in Kisangani (DRC). Materials and methods: We conducted a multi-hospital, multi-site based cross-sectional study among 125 SCD patients at Kisangani and 136 at the Centre Hospitalier Régional de la Citadelle (CHR) of Liège (Belgium). Data were collected using a survey form. Diagnostic con?rmation of SCD was made by high-performance liquid chromatography coupled to mass spectrometry. Alloantibodies were screened using the agglutination technique on gel cards and their specificity determined using 11 and/or 16 cell panels. Statistical analyses were carried out using SPSS. Results: The prevalence of RBC alloimmunization was 9.6% for samples collected at Kisangani versus 22.8% (including historical antibodies) at the CHR and increased to 10% at Kisangani versus 29.3% at the CHR when considering only patients transfused in the last five years prior to the study. At Kisangani as well as at CHR, the median age of alloimmunized patients was higher than that of non-alloimmunized patients, 15.5 years (IQR:4.8-19.8) vs 10 (IQR: 6.5-17) and 24 years (IQR:14-31) vs 17(IQR:12-24), respectively. The median number of blood units was higher in both Kisangani and CHR immunized patients compared to non-immunized patients, 8(IQR:5-11) vs 5(IQR:3-13) and 41(IQR:6-93) vs 6.5(3-37) respectively. At Kisangani(N=14), the most frequent antibodies were anti-D (28.6%), anti-C (21.4%), anti-M (14.3%,) and anti-N (14.3%) versus anti-E (13.6%), anti-S (13.6%), and anti-Lea (11.4%) at the CHR(N=44). Conclusion: Red blood cell alloimmunization is a common complication of transfusion therapy in SCD patients in the DRC and is mostly directed against the RH system. In a low income context in the DRC, blood transfusion with a minimum ABO, D, C, E antigen matching could significantly reduce the incidence of this complication. The authors do not declare any conflict of interest
P-097: KNOWLEDGE AND EXPERIENCES OF PARENTS WITH CHILDREN AFFECTED BY SICKLE CELL DISEASE FOLLOWED AT CHUK: A QUALITATIVE STUDY
Authors: HAVUGARUREMA P., NYIRIMANZI N., KANYAMUHUNGA A.
Journal: HemaSphere (2022)

Purpose: Parental knowledge about SCD has a direct effect on reducing mortality and complications related to Sickle cell disease. Families of children affected by SCD face several hardships caused by raising a child afflicted with this disease. However, parental knowledge about SCD and challenges faced by families of children with SCD have not been assessed in Rwanda. The aim of this study was to explore the knowledge on sickle cell disease among parents of children affected by SCD and to identify their experiences while caring for affected children. Materials and methods: A qualitative method using thematic analysis was used. Data collection was done using semi-structured interviews with thirteen parents from one referral hospital with Pediatric hematology clinic in Rwanda. Results: Thirteen caregivers including eleven mothers and two fathers participated in the study. Two broad themes were identified: knowledge and understanding of SCD, and experiences and hardships. The majority of parents had some knowledge of SCD but most of them had no knowledge of inheritance pattern of SCD. Prior to the diagnosis being made, all parents had never heard of SCD and they had misconceptions about the condition of their children. Parents face several challenges including persistent psychosocial distress and practical hardships caused by SCD. This study also revealed coping strategies used by parents. Conclusion: This study showed that parents had some knowledge of SCD with gaps of inheritance pattern. Families of children affected by SCD face several burdens including nutrition for the affected child, poverty and persistent emotional distress. Raising awareness of SCD among the public, availing premarital screening program for high risk people and providing social support for affected families would help to mitigate the impact of this disease. The authors do not declare any conflict of interest
P-071: HEMATOLOGICAL PROFILE AND ITS INTERRELATIONSHIPS WITH HEMOGLOBIN SUBTYPES IN SICKLE CELL DISEASE PATIENTS OF CHHATTISGARH
Authors: LAD H., CHANDAK G., PATRA P.
Journal: HemaSphere (2022)

Purpose: Sickle cell disease (SCD) is one of the known autosomal recessive hereditary disorders of hemoglobin known to associate with serious complications and responsible for recurrent hospitalization, considerable morbidity and mortality in the affected individuals. Despite of being a monogenic autosomal recessive genetic disease, it is one of the most heterogeneous diseases known. In the face of high prevalence and heterogeneity in the area, there are limited studies addressing the hematological pattern of sickle cell disease for proper therapeutic management and treatment. Therefore, the study aims to establish a baseline data of hematological values in pediatric age group (1 - 14 years) and adults (> 14 years) and to establish an interrelationship between red cell indices with hemoglobin subtypes in sickle cell disease (SCD) in Chhattisgarh, India. Materials and methods: Following the preliminary screening by sickle solubility test, blood samples of positive suspected cases were collected in EDTA tubes for hemoglobin fractionation by cation exchange high performance liquid chromatography (HPLC) and hematological indices by the automated cell counter. Results: The results indicated that out of total 4674 sickle cell disease cases, 3338 (71.42 %) cases were of the pediatric group while 1336 (28.58 %) adult cases. Surprisingly, SCD subjects showed high fetal hemoglobin (average 18.68 %) with no significant difference in both the age groups. However, a significant difference was observed in red cell indices with moderate total hemoglobin (average Hb 9.5 %) and red cell indices in both the groups. Furthermore, the result of correlation analysis indicated a significant negative correlation between fetal hemoglobin and RBC, MCHC and RDW; Hb A2 showed significant negative correlation with MCHC while positive with RDW, further Hb S showed a significant positive correlation with MCHC in both the age groups. Conclusion: The single most striking observation to emerge from the data is that the sickle cell disease subjects from Chhattisgarh exhibit mild phenotypes with the presence of high fetal hemoglobin with moderate to normal total hemoglobin and red cell indices. It is expected that the study will act as a database to characterize the hematological indices which can be taken into consideration when dealing with SCD patients for therapeutic management. The authors do not declare any conflict of interest